Canonical Allele Identifier: CA2644076073
Gene: HMGCL HGNC NCBI

Linked Data

gnomAD v4: 1-23808067-G-T
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.23808067G>T , CM000663.2:g.23808067G>T GRCh38
NC_000001.10:g.24134557G>T , CM000663.1:g.24134557G>T GRCh37
NC_000001.9:g.24007144G>T NCBI36
NG_013061.1:g.22393C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000374490.8:c.750+68C>A MANE Select ENSP00000363614.3:n.750+68C>A
ENST00000235958.4:c.320+68C>A
ENST00000374487.6:c.*791+68C>A ENSP00000363611.2:n.*791+68C>A
ENST00000374490.7:c.750+68C>A ENSP00000363614.3:n.750+68C>A
ENST00000436439.6:c.537+68C>A ENSP00000389281.2:n.537+68C>A
ENST00000496907.1:n.385+68C>A
ENST00000509389.5:n.441+68C>A
NM_000191.2:c.750+68C>A NP_000182.2:n.750+68C>A
NM_001166059.1:c.537+68C>A NP_001159531.1:n.537+68C>A
NM_000191.3:c.750+68C>A MANE Select NP_000182.2:n.750+68C>A
NM_001166059.2:c.537+68C>A NP_001159531.1:n.537+68C>A
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